M. Uematsu

Novel biallelic mutations in the PNPT1 gene encoding a mitochondrial‐RNA‐import protein PNPase cause delayed myelination

A. Ohtake, K. Murayama, S. Kure, 2018, Clinical genetics.

The utility of post-test newborn blood spot screening cards for epigenetic association analyses: association between HIF3A methylation and birth weight-for-gestational age

S. Yamaguchi, Chihiro Imai, Noriko Sato, 2019, Journal of Human Genetics.

The utility of post-test newborn blood spot screening cards for epigenetic association analyses: association between HIF3A methylation and birth weight-for-gestational age

Chihiro Imai, Noriko Sato, M. Uematsu, 2019, Journal of Human Genetics.